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770430000: Autosomal recessive distal spinal muscular atrophy type 3 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3700823019 Autosomal recessive distal spinal muscular atrophy type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3700824013 Autosomal recessive distal spinal muscular atrophy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3700825014 Distal spinal muscular atrophy type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3700826010 A rare neuromuscular disease with characteristics of progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
9998881000172110 amyotrophie spinale distale de type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
9998891000172113 amyotrophie spinale distale autosomique récessive de type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
9998901000172112 atrophie musculaire spinale distale autosomique récessive de type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4448441000172111 distale spinale spieratrofie type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4448451000172113 autosomaal recessieve distale spinale spieratrofie type 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 1
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Is a Distal spinal muscular atrophy false Inferred relationship Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Some 1
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Finding site Nerve structure true Inferred relationship Some 2
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Is a Autosomal recessive distal hereditary motor neuropathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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